Walla Al-Hertani

Walla Al-Hertani

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Walla Al-Hertani

Walla Al-Hertani

Publications by authors named "Walla Al-Hertani"

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20Publications

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Effect of Ambroxol chaperone therapy on Glucosylsphingosine (Lyso-Gb1) levels in two Canadian patients with type 3 Gaucher disease.

Mol Genet Metab Rep 2019 Sep 17;20:100476. Epub 2019 May 17.

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713848PMC
September 2019

Infantile Presentation of Leber Hereditary Optic Neuropathy "Plus" Disease.

J Neuroophthalmol 2019 Jun;39(2):249-252

Department of Experimental Surgery (HZ), McGill University, Montreal, Quebec, Canada; Department of Ophthalmology (MM, DT), McGill University, Montreal, Canada; Department of Pediatric Radiology (NW), Montreal Children's Hospital, Montreal, Canada; Department of Pediatrics and Medical Genetics (WA-H), Alberta Children's Hospital, Calgary, Canada; and Department of Ophthalmology (DT), Montreal Children's Hospital, Montreal, Canada.

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http://dx.doi.org/10.1097/WNO.0000000000000753DOI Listing
June 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

A checklist for managed access programmes for reimbursement co-designed by Canadian patients and caregivers.

Health Expect 2018 12 6;21(6):973-980. Epub 2018 Apr 6.

Health Technology & Policy Unit, School of Public Health, University of Alberta, Edmonton, AB, Canada.

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http://dx.doi.org/10.1111/hex.12690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6250858PMC
December 2018

Engagement of Canadian Patients with Rare Diseases and Their Families in the Lifecycle of Therapy: A Qualitative Study.

Patient 2018 06;11(3):353-359

Health Technology and Policy Unit, School of Public Health, University of Alberta, Edmonton, AB, Canada.

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http://dx.doi.org/10.1007/s40271-017-0293-1DOI Listing
June 2018

ALG9-CDG: New clinical case and review of the literature.

Mol Genet Metab Rep 2017 Dec 6;13:55-63. Epub 2017 Sep 6.

Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2017.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596360PMC
December 2017

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review.

Orphanet J Rare Dis 2017 12 22;12(1):188. Epub 2017 Dec 22.

Health Technology & Policy Unit, School of Public Health, University of Alberta, Edmonton, AB, Canada.

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http://dx.doi.org/10.1186/s13023-017-0738-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741909PMC
December 2017

Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

J Med Genet 2017 04 22;54(4):241-247. Epub 2016 Nov 22.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2016-104289DOI Listing
April 2017

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.

Am J Med Genet A 2012 Jun 14;158A(6):1452-4. Epub 2012 May 14.

Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35354
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http://dx.doi.org/10.1002/ajmg.a.35354DOI Listing
June 2012

Human newborn polymorphonuclear neutrophils exhibit decreased levels of MyD88 and attenuated p38 phosphorylation in response to lipopolysaccharide.

Clin Invest Med 2007 ;30(2):E44-53

Department of Microbiology, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

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October 2007